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13-01-2020 | Oncology | News | Article

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Novel DNA damage repair mutations identified in mesothelioma

Shreeya Nanda

medwireNews: Germline pathogenic variants, primarily in DNA damage repair genes, are present in about 12% of patients with malignant pleural mesothelioma, report US researchers.

Marjorie Zauderer and colleagues from Memorial Sloan Kettering Cancer Center in New York, used the MSK-IMPACT™ targeted next-generation sequencing platform to analyze blood samples from 84 patients who received clinical care at their institution between 2013 and 2016.

Of the germline pathogenic variants identified in 12% of the study participants, the majority (90%) were in genes involved in DNA damage repair.

The study confirmed the presence of previously reported mutations in BAP1 (in 4% of patients), BRCA2 (1%), and MRE11A (1%), and additionally identified novel mutations in MSH3 (1%), BARD1 (1%), and RECQL4 (2%).

One patient had a likely pathogenic variant in the tumor recurrence gene SHQ1, which has not previously been associated with cancer-predisposition syndromes or mesothelioma.

“Our study lends further support for the role of aberrations in DNA damage repair genes in the pathogenesis of malignant pleural mesotheliomas and suggests that targeting members of these pathways for screening and treatment warrants further studying”, the team concludes in the Journal of Thoracic Oncology.

medwireNews is an independent medical news service provided by Springer Healthcare. © 2020 Springer Healthcare part of the Springer Nature group

J Thorac Oncol 2019; doi:10.1016/j.jtho.2019.12.111

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